Catalog

Congenital myopathy with type 1 fibre predominance

No MMS code

Link to WHO Definition

Congenital myopathy with type 1 fibre predominance – http://id.who.int/icd/entity/1712548937

Disorder of skeletal muscle with weakness and hypotonia present at birth or shortly thereafter, generally slow or absent progression of motor symptoms and frequent skeletal abnormalities, including congenital hip dislocation, joint contractures, foot deformities and kyphoscoliosis (Brooke, 1973). The characteristic histochemical pattern on muscle biopsy consists of a predominance of type 1 fibres, which are at least 12% smaller than type 2 fibres, the latter being normal or hypertrophic. Sporadic and familial cases, consistent with both autosomal dominant and recessive inheritance, have been reported.